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BRAF
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Interpretation 257
Tier 3
BRAF
Variants
BRAF F595S
Primary Sites
Brain
Tumor Types
Medulloblastoma
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. BRAF mutations are common in a wide spectrum of brain tumors but they are not described in medulloblastomas to our knowledge. BRAF F595 mutations are pathogenic in some tumor types but their clinical significance in medulloblastomas remains to be studied. Various B-Raf inhibitors(Vemurafenib, Dabrafenib) have been FDA approved for therapy for some BRAF mutations in select tumor types in certain settings.

Citations
  1. Deichmann M, et al. B-raf exon 15 mutations are common in primary melanoma resection specimens but not associated with clinical outcome. Oncology 2004;66(5):411-9
  2. Deichmann M, et al. The oncogenic B-raf V599E mutation occurs more frequently in melanomas at sun-protected body sites. Int J Oncol 2006;29(1):139-45
  3. Robinson G, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 2012;488(7409):43-8
  4. Pugh TJ, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 2012;488(7409):106-10
Last updated: 2016-04-17 17:38:32 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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